Annotations from organization databases

Annotations from organization databases appear in various parts of the platform, each showing certain details.

Historic and noise databases

Variant table

• Allele frequency—in "[Organization DB] AF (%)" column

• Allele count—in "[Organization DB] AF (#)" column

Variant page

• Summary tab Population summary card

  • Allele count—in "Allele count" field

  • Hom/Hemi count—in "Hom/Hemi count" field

  • The last 10 samples—in "Last 10 samples" field

• Population statistics tab Organization DBs

  • Allele frequency—in "Allele frequency" column

  • Allele count—in "Allele count" column

  • Hom/Hemi count—in "# of Homozygotes" column

  • Allele number—in "Total" column

• Visualization tab Population data "[Organization DB]" tracks display variants from organization databases. Left-click a variant in a track to review variant details:

  • Allele frequency

  • Allele count

  • Allele number

  • Het count

  • Hom/Hemi count

  • The last 10 samples

Curated databases

Variant table

• Color-coded "[Organization DB]" badge based on pathogenicity in the Curated DB—"Known variants" column

Variant page

• Summary tab Clinical significance card Color-coded "[Organization DB]" badge based on pathogenicity in the Curated DB

• Clinical significance tab Clinical significance card Color-coded "[Organization DB]" badge based on pathogenicity in the Curated DB